Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas. Clin Genet. 2017 May 25;: Authors: McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM Abstract Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first-degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co-existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas. PMID: 28542708 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research